Varaico: Literature-Extracted Genetic Variants

Gene:TBL1XR1
Variant:p.C334R
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TBL1XR1

NM_024665.7:p.C334R

Associated Papers

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.

Ren M et al.

Gene, 2023

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y et al.

Molecular Genetics & Genomic Medicine, 2022

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Aguilera C et al.

Plos One, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."